Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Dual serine/threonine and tyrosine protein kinase

The protein encoded by the DSTYK gene plays an important role in signal transduction during development, so it comes as no surprise that mutations are responsible for autosomal dominant kidney and urinary tract malformations.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Congenital anomalies of kidney and urinary tract 1
DSTYK

References:

1.

Sanna-Cherchi S et al. (2013) Mutations in DSTYK and Dominant Urinary Tract Malformations.

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2.

Zha J et al. (2004) RIP5 is a RIP-homologous inducer of cell death.

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3.

Seki N et al. (1997) Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.

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4.

Orphanet article

Orphanet ID 406487 [^]
5.

NCBI article

NCBI 25778 [^]
6.

OMIM.ORG article

Omim 612666 [^]
Update: April 29, 2019